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NM_000546.6(TP53):c.993+2T>C AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001553782.1

Allele description [Variation Report for NM_000546.6(TP53):c.993+2T>C]

NM_000546.6(TP53):c.993+2T>C

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.993+2T>C
HGVS:
  • NC_000017.11:g.7673533A>G
  • NG_017013.2:g.19018T>C
  • NM_000546.6:c.993+2T>CMANE SELECT
  • NM_001126112.3:c.993+2T>C
  • NM_001126113.3:c.993+2T>C
  • NM_001126114.3:c.993+2T>C
  • NM_001126115.2:c.597+2T>C
  • NM_001126116.2:c.597+2T>C
  • NM_001126117.2:c.597+2T>C
  • NM_001126118.2:c.876+2T>C
  • NM_001276695.3:c.876+2T>C
  • NM_001276696.3:c.876+2T>C
  • NM_001276697.3:c.516+2T>C
  • NM_001276698.3:c.516+2T>C
  • NM_001276699.3:c.516+2T>C
  • NM_001276760.3:c.876+2T>C
  • NM_001276761.3:c.876+2T>C
  • NM_001407262.1:c.993+2T>C
  • NM_001407263.1:c.876+2T>C
  • NM_001407264.1:c.993+2T>C
  • NM_001407265.1:c.876+2T>C
  • NM_001407266.1:c.993+2T>C
  • NM_001407267.1:c.876+2T>C
  • NM_001407268.1:c.993+2T>C
  • NM_001407269.1:c.876+2T>C
  • NM_001407270.1:c.993+2T>C
  • NM_001407271.1:c.876+2T>C
  • LRG_321:g.19018T>C
  • NC_000017.10:g.7576851A>G
Links:
dbSNP: rs1597359053
NCBI 1000 Genomes Browser:
rs1597359053
Molecular consequence:
  • NM_000546.6:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126112.3:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126113.3:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126114.3:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126115.2:c.597+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126116.2:c.597+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126117.2:c.597+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126118.2:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276695.3:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276696.3:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276697.3:c.516+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276698.3:c.516+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276699.3:c.516+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276760.3:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276761.3:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407262.1:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407263.1:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407264.1:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407265.1:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407266.1:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407267.1:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407268.1:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407269.1:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407270.1:c.993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407271.1:c.876+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774782MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticin vivo

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedin vivo

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV001774782.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vivonot provided

Description

Intron inclusion between exons 9 & 10, based on review of RNA-seq in TCGA-VQ-A94R-01A tumor which has TP53 NM_000546.6:c.993+2T>C variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024